AutismKB 2.0

Annotation Detail for KDM5C


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Basic Information Top
Gene Symbol:KDM5C ( DXS1272E,JARID1C,MRXJ,MRXSJ,SMCX,XE169 )
Gene Full Name: lysine (K)-specific demethylase 5C
Band: Xp11.22
Quick LinksEntrez ID:8242; OMIM: 314690; Uniprot ID:KDM5C_HUMAN; ENSEMBL ID: ENSG00000126012; HGNC ID: 11114
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
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Desease Name
Mental retardation, X-linked, syndromic, JARID1C-related
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C014347 decitabine decitabine results in increased expression of KDM5C mRNAincreases expression 17908484
C006253 pirinixic acid pirinixic acid results in increased expression of KDM5C mRNAincreases expression 18301758
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.7218653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.3716434500
MESH:D001321 Autistic Disorder marker/mechanism 18203167
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.7019483382
MESH:D001943 Breast Neoplasms decitabine 2.5319208741 18320071
MESH:D002294 Carcinoma, Squamous Cell decitabine 2.6919215824
MESH:D002779 Cholestasis pirinixic acid 3.1919176532
MESH:D003110 Colonic Neoplasms decitabine 2.3917616700
MESH:D015179 Colorectal Neoplasms decitabine 2.1118981723
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.6118249437
MESH:D004487 Edema pirinixic acid 3.0212083418
MESH:D004701 Endocrine Gland Neoplasms decitabine 6.1919294695
MESH:D005234 Fatty Liver pirinixic acid 3.3120131406 19236843
MESH:D006258 Head and Neck Neoplasms decitabine 3.8019215824
MESH:D006333 Heart Failure pirinixic acid 2.8120558911
MESH:D006529 Hepatomegaly pirinixic acid 3.7618467677 16221962 19176532 19772884
MESH:D006943 Hyperglycemia pirinixic acid 3.6920558911
MESH:D007248 Infertility, Male decitabine 3.5117581917
MESH:D007333 Insulin Resistance pirinixic acid 2.9316306350
MESH:D007938 Leukemia decitabine 3.2719235587 18980019
MESH:D007951 Leukemia, Myeloid decitabine 4.5519117987 18454857 17236224
MESH:D015470 Leukemia, Myeloid, Acute decitabine 2.4418704418 18460780 18206229 19010910 19387464 17679729
MESH:D015477 Leukemia, Myelomonocytic, Chronic decitabine 6.5318055864
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms pirinixic acid 1.9520007298 15890375 16377806
MESH:D008223 Lymphoma decitabine 3.7619470736
MESH:D008545 Melanoma decitabine 2.2916505122 17785578
MESH:D008607 Mental Retardation marker/mechanism 21076407
OMIM:300534 MENTAL RETARDATION, X-LINKED, SYNDROMIC, JARID1C-RELATED marker/mechanism
MESH:D009101 Multiple Myeloma decitabine 3.6918172295
MESH:D009135 Muscular Diseases pirinixic acid 4.2716239165
MESH:D009190 Myelodysplastic Syndromes decitabine 3.6219157545 16882708 19010910 18608210
MESH:D009203 Myocardial Infarction pirinixic acid 2.3019151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.3316411023
MESH:D009369 Neoplasms decitabine 5.7019470736 19116145 17925555
MESH:D009369 Neoplasms pirinixic acid 5.7017405874
MESH:D009765 Obesity pirinixic acid 1.9020558911
MESH:D010051 Ovarian Neoplasms decitabine 2.7619259094 19331143
MESH:D010190 Pancreatic Neoplasms decitabine 2.9019294695
MESH:D055728 Primary Myelofibrosis decitabine 5.4917616702
MESH:D015427 Reperfusion Injury pirinixic acid 2.5819058328
MESH:D012208 Rhabdomyosarcoma decitabine 5.0119155313
MESH:D013274 Stomach Neoplasms decitabine 2.1119037991
MESH:D013964 Thyroid Neoplasms decitabine 3.7117967635
MESH:D001749 Urinary Bladder Neoplasms decitabine 2.8617616700 19087683
MESH:D014604 Uveal Neoplasms decitabine 5.9817785578
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA35964
    • No data
    Releated disease ID Related disease Name
    PA444929Mental Retardation
    PA445509Reflex, Abnormal
    No data
    Drug Bank Top

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    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018


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